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IFT43 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IFT43 gene

The IFT43 gene encodes a protein that is a core component of the intraflagellar transport‑A (IFT‑A) complex, essential for cilia formation, signaling, and when mutated can cause cranioectodermal dysplasia.

Overview

The IFT43 gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger‑like projections that stick out from the surface of cells. Cilia participate in signaling pathways that transmit information within and between cells and are important for the development and function of many types of cells and tissues, including cells in the kidneys and liver and the light‑sensitive tissue at the back of the eye (the retina). Cilia also play a role in the development of the bones, although the mechanism is not well understood.

The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport. This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. Each IFT particle is made up of two groups of IFT proteins: complex A and complex B. The protein produced from the IFT43 gene forms part of IFT complex A (IFT‑A). During intraflagellar transport, this complex carries materials from the tip to the base of cilia.

The IFT‑A complex is essential for proper regulation of the Sonic Hedgehog signaling pathway, which is important for the growth and maturation (differentiation) of cells and the normal shaping (patterning) of many parts of the body, especially during embryonic development. The exact role of the complex in this pathway is unclear.

Health Conditions Related to Genetic Changes

Cranioectodermal dysplasia

A mutation in the IFT43 gene is a rare cause of cranioectodermal dysplasia. This condition is characterized by an elongated head (dolichocephaly) with a prominent forehead and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which include the teeth, hair, nails, and skin.

The IFT43 gene mutation involved in cranioectodermal dysplasia leads to production of an abnormally short IFT43 protein, which is likely broken down quickly. Shortage of this component of the IFT‑A complex impairs the function of the entire complex, disrupting transport of proteins and materials from the tips of cilia. As a result, assembly and maintenance of cilia is impaired, which leads to a smaller number of cilia and abnormalities in their shape and structure. Although the mechanism is unclear, a loss of normal cilia impedes proper development of bone and other tissues, leading to the features of cranioectodermal dysplasia. Some researchers suggest that disrupted intraflagellar transport prevents signaling through the Sonic Hedgehog pathway, which could impact cell growth and other functions in several tissues throughout the body.

Other Names for This Gene

  • C14orf179
  • CED3
  • FLJ32173
  • IFT43_HUMAN
  • intraflagellar transport 43 homolog (Chlamydomonas)
  • intraflagellar transport protein 43 homolog
  • MGC16028

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of IFT43

Scientific Articles on PubMed

  • PubMed

Catalog of Genes and Diseases from OMIM

  • INTRAFLAGELLAR TRANSPORT 43; IFT43

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

References

  • Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs‑Hoeijmakers JH, de Leeuw N, Cormier‑Daire V, Brunner HG, Knoers NV, Roepman R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390‑5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4.
  • Liem KF Jr, Ashe A, He M, Satir P, Moran J, Beier D, Wicking C, Anderson KV. The IFT‑A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J Cell Biol. 2012 Jun 11;197(6):789‑800. doi: 10.1083/jcb.201110049.
  • Tan W, Lin A, Keppler‑Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® (Internet). Seattle (WA): University of Washington, Seattle; 1993‑2026.

Genomic Location

The IFT43 gene is found on chromosome 14.

Medical Encyclopedia

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Frequently Asked Questions

Key issues include progressive kidney disease (often cystic or tubular dysfunction), skeletal abnormalities such as short stature and limb shortening, dental anomalies, and possible retinal degeneration. Regular renal ultrasound, growth monitoring, dental exams, and ophthalmologic assessments are essential.
IFT43 disease follows an autosomal recessive pattern: each sibling has a 25 % chance of being affected, a 50 % chance of being an asymptomatic carrier, and a 25 % chance of having two normal copies. Carrier testing for siblings is recommended, especially if they plan to have children.
Diagnosis is made by targeted next‑generation sequencing or whole‑exome sequencing that identifies biallelic loss‑of‑function variants in IFT43. If the familial mutation is known, prenatal testing via chorionic villus sampling or amniocentesis, or pre‑implantation genetic testing for embryos, can be offered.
Currently, no therapy directly restores ciliary transport. Management focuses on organ‑specific care: controlling hypertension and proteinuria for kidney disease, orthopedic interventions for skeletal deformities, and vitamin D supplementation for bone health. Research into Hedgehog pathway modulators is ongoing but not yet clinically available.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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